ClinVar Miner

List of variants in gene GLI3 reported as pathogenic for not provided

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Total variants: 11
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HGVS dbSNP
NM_000168.6(GLI3):c.1002T>A (p.Tyr334Ter)
NM_000168.6(GLI3):c.1191_1206del (p.Thr398fs) rs1554315071
NM_000168.6(GLI3):c.1452G>A (p.Trp484Ter) rs1554314595
NM_000168.6(GLI3):c.1464_1489dup (p.Leu497fs) rs1554314581
NM_000168.6(GLI3):c.1578del (p.Phe527fs) rs1064793685
NM_000168.6(GLI3):c.1697del (p.His566fs) rs886039667
NM_000168.6(GLI3):c.2071C>T (p.Gln691Ter) rs1554306031
NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter) rs121917714
NM_000168.6(GLI3):c.3147C>G (p.Tyr1049Ter) rs779898173
NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter) rs1057520063
NM_000168.6(GLI3):c.4665dup (p.Asn1556fs) rs1554304247

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